Incidental Mutation 'IGL01933:Lztr1'
| ID |
180512 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lztr1
|
| Ensembl Gene |
ENSMUSG00000022761 |
| Gene Name |
leucine-zipper-like transcriptional regulator, 1 |
| Synonyms |
TCFL2, 1200003E21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17326552-17344197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17338455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 226
(V226E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023444]
[ENSMUST00000115681]
[ENSMUST00000232372]
[ENSMUST00000231292]
[ENSMUST00000231307]
[ENSMUST00000231994]
[ENSMUST00000232242]
|
| AlphaFold |
Q9CQ33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023444
AA Change: V313E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: V313E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_6
|
64 |
103 |
1.1e-7 |
PFAM |
|
Pfam:Kelch_1
|
64 |
105 |
1.7e-7 |
PFAM |
|
Pfam:Kelch_4
|
64 |
113 |
4.7e-10 |
PFAM |
|
Pfam:Kelch_3
|
74 |
123 |
3.1e-10 |
PFAM |
|
Pfam:Kelch_5
|
111 |
152 |
7.2e-9 |
PFAM |
|
Pfam:Kelch_1
|
114 |
161 |
2.8e-7 |
PFAM |
|
Pfam:Kelch_2
|
114 |
163 |
1e-7 |
PFAM |
|
Pfam:Kelch_4
|
114 |
170 |
1.9e-6 |
PFAM |
|
Pfam:Kelch_3
|
124 |
180 |
9.1e-9 |
PFAM |
|
Pfam:Kelch_4
|
171 |
224 |
6.1e-6 |
PFAM |
|
Pfam:Kelch_3
|
181 |
232 |
6e-7 |
PFAM |
|
Pfam:Kelch_1
|
224 |
267 |
1e-6 |
PFAM |
|
Pfam:Kelch_4
|
225 |
278 |
6.2e-6 |
PFAM |
|
Pfam:Kelch_3
|
234 |
289 |
2.2e-8 |
PFAM |
|
Pfam:Kelch_1
|
280 |
325 |
7.7e-10 |
PFAM |
|
Pfam:Kelch_2
|
280 |
325 |
4.3e-7 |
PFAM |
|
Pfam:Kelch_6
|
280 |
325 |
9.6e-9 |
PFAM |
|
Pfam:Kelch_4
|
280 |
329 |
2.5e-8 |
PFAM |
|
BTB
|
440 |
571 |
4.16e-4 |
SMART |
|
BTB
|
664 |
765 |
2.95e-18 |
SMART |
|
low complexity region
|
808 |
821 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115681
AA Change: V313E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111345
Gene: ENSMUSG00000022761
AA Change: V313E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_5
|
63 |
99 |
1.1e-6 |
PFAM |
|
Pfam:Kelch_1
|
64 |
105 |
1.6e-8 |
PFAM |
|
Pfam:Kelch_4
|
64 |
113 |
5.8e-9 |
PFAM |
|
Pfam:Kelch_6
|
64 |
115 |
2.6e-9 |
PFAM |
|
Pfam:Kelch_3
|
74 |
123 |
2.4e-11 |
PFAM |
|
Pfam:Kelch_5
|
111 |
150 |
5.5e-10 |
PFAM |
|
Pfam:Kelch_1
|
114 |
161 |
5.8e-8 |
PFAM |
|
Pfam:Kelch_2
|
114 |
163 |
3.1e-8 |
PFAM |
|
Pfam:Kelch_4
|
114 |
170 |
1e-9 |
PFAM |
|
Pfam:Kelch_3
|
124 |
180 |
2.5e-10 |
PFAM |
|
Pfam:Kelch_5
|
168 |
204 |
6.1e-7 |
PFAM |
|
Pfam:Kelch_4
|
171 |
224 |
7.9e-8 |
PFAM |
|
Pfam:Kelch_3
|
181 |
233 |
9.1e-8 |
PFAM |
|
Pfam:Kelch_4
|
223 |
279 |
3.1e-7 |
PFAM |
|
Pfam:Kelch_1
|
224 |
267 |
1.9e-6 |
PFAM |
|
Pfam:Kelch_3
|
234 |
289 |
1.5e-8 |
PFAM |
|
Pfam:Kelch_1
|
280 |
325 |
2.9e-10 |
PFAM |
|
Pfam:Kelch_2
|
280 |
325 |
1.3e-7 |
PFAM |
|
Pfam:Kelch_6
|
280 |
326 |
2.4e-9 |
PFAM |
|
Pfam:Kelch_4
|
280 |
335 |
1.7e-9 |
PFAM |
|
Pfam:Kelch_5
|
381 |
419 |
2.8e-7 |
PFAM |
|
BTB
|
440 |
571 |
4.16e-4 |
SMART |
|
BTB
|
664 |
797 |
1.7e-18 |
SMART |
|
low complexity region
|
808 |
821 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134618
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142393
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232372
AA Change: V226E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231292
AA Change: V294E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232644
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the BR-C, ttk and bab-kelch superfamily that, in humans, localizes to the Golgi network and is associated with the ras / mitogen-activated protein kinase pathway. Loss-of-function mutations in the human ortholog are associated with glioblastoma multiforme, schwannomatosis, Noonan syndrome, and DiGeorge syndrome. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,164,650 (GRCm39) |
V575F |
possibly damaging |
Het |
| Abca2 |
T |
A |
2: 25,334,123 (GRCm39) |
V1800E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,322,251 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
C |
A |
8: 44,104,569 (GRCm39) |
G359W |
probably damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,254,493 (GRCm39) |
T372I |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,147,574 (GRCm39) |
D847G |
probably damaging |
Het |
| Arap3 |
T |
A |
18: 38,111,506 (GRCm39) |
T1137S |
possibly damaging |
Het |
| Atp10b |
A |
C |
11: 43,085,457 (GRCm39) |
T279P |
probably damaging |
Het |
| Bmp2 |
T |
A |
2: 133,396,578 (GRCm39) |
M78K |
possibly damaging |
Het |
| Ccdc61 |
T |
G |
7: 18,626,483 (GRCm39) |
M369L |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,933,304 (GRCm39) |
I758N |
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,468,047 (GRCm39) |
*526W |
probably null |
Het |
| Cgnl1 |
C |
T |
9: 71,552,765 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,315,104 (GRCm39) |
Y173H |
probably damaging |
Het |
| Cntn4 |
G |
A |
6: 106,671,345 (GRCm39) |
S976N |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,937,313 (GRCm39) |
T1401I |
probably benign |
Het |
| D5Ertd579e |
T |
C |
5: 36,773,100 (GRCm39) |
T432A |
probably benign |
Het |
| Dixdc1 |
G |
A |
9: 50,614,558 (GRCm39) |
R163* |
probably null |
Het |
| Dmxl1 |
C |
A |
18: 50,010,852 (GRCm39) |
T1003K |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 31,032,872 (GRCm39) |
R388W |
probably benign |
Het |
| Eci3 |
C |
T |
13: 35,132,772 (GRCm39) |
A202T |
probably damaging |
Het |
| Egr2 |
T |
C |
10: 67,376,024 (GRCm39) |
S220P |
probably damaging |
Het |
| Fntb |
C |
T |
12: 76,966,880 (GRCm39) |
P405S |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm26602 |
C |
A |
10: 79,746,955 (GRCm39) |
R236L |
probably benign |
Het |
| Hao2 |
T |
C |
3: 98,787,648 (GRCm39) |
|
probably benign |
Het |
| Irgm2 |
A |
T |
11: 58,110,783 (GRCm39) |
N170I |
possibly damaging |
Het |
| Klhl20 |
G |
A |
1: 160,934,357 (GRCm39) |
R221W |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,939 (GRCm39) |
|
probably null |
Het |
| Lrrc46 |
C |
T |
11: 96,926,354 (GRCm39) |
E181K |
probably benign |
Het |
| Myh9 |
G |
T |
15: 77,665,418 (GRCm39) |
D684E |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,732,349 (GRCm39) |
T713A |
probably damaging |
Het |
| Nrap |
G |
T |
19: 56,377,250 (GRCm39) |
N62K |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,699,021 (GRCm39) |
Y180C |
probably damaging |
Het |
| Or5an1 |
A |
T |
19: 12,261,069 (GRCm39) |
Y219F |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,662,016 (GRCm39) |
D708G |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,488,393 (GRCm39) |
P1717L |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,683,789 (GRCm39) |
D1095G |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,197,576 (GRCm39) |
H771R |
probably benign |
Het |
| R3hcc1l |
G |
A |
19: 42,551,389 (GRCm39) |
A129T |
probably damaging |
Het |
| Rbm15 |
G |
A |
3: 107,238,419 (GRCm39) |
R660W |
probably damaging |
Het |
| Recql |
C |
T |
6: 142,310,364 (GRCm39) |
V489M |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,626,897 (GRCm39) |
S162R |
probably damaging |
Het |
| Sec11a |
T |
C |
7: 80,584,810 (GRCm39) |
I42M |
probably benign |
Het |
| Slc25a23 |
G |
A |
17: 57,359,813 (GRCm39) |
Q61* |
probably null |
Het |
| Son |
A |
T |
16: 91,454,903 (GRCm39) |
M1217L |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,339,593 (GRCm39) |
N123S |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,088,441 (GRCm39) |
|
probably benign |
Het |
| St13 |
T |
C |
15: 81,273,899 (GRCm39) |
|
probably null |
Het |
| St3gal3 |
A |
T |
4: 117,889,072 (GRCm39) |
D57E |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,940,505 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,894 (GRCm39) |
T107A |
possibly damaging |
Het |
| Tmem135 |
G |
T |
7: 88,793,065 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,283,467 (GRCm39) |
M696T |
probably benign |
Het |
| Trbv28 |
T |
A |
6: 41,248,761 (GRCm39) |
L97Q |
probably damaging |
Het |
| Trpc4ap |
A |
T |
2: 155,481,455 (GRCm39) |
F534I |
possibly damaging |
Het |
| Trpm8 |
T |
C |
1: 88,254,127 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,871 (GRCm39) |
T239A |
probably benign |
Het |
| Zmym5 |
T |
G |
14: 57,041,617 (GRCm39) |
H162P |
probably damaging |
Het |
|
| Other mutations in Lztr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Lztr1
|
APN |
16 |
17,335,314 (GRCm39) |
splice site |
probably benign |
|
|
IGL01152:Lztr1
|
APN |
16 |
17,340,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01501:Lztr1
|
APN |
16 |
17,340,255 (GRCm39) |
splice site |
probably null |
|
|
IGL01512:Lztr1
|
APN |
16 |
17,340,255 (GRCm39) |
splice site |
probably null |
|
|
IGL01514:Lztr1
|
APN |
16 |
17,340,255 (GRCm39) |
splice site |
probably null |
|
|
IGL01516:Lztr1
|
APN |
16 |
17,340,255 (GRCm39) |
splice site |
probably null |
|
|
IGL02603:Lztr1
|
APN |
16 |
17,327,550 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03012:Lztr1
|
APN |
16 |
17,339,348 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03191:Lztr1
|
APN |
16 |
17,336,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:Lztr1
|
UTSW |
16 |
17,342,101 (GRCm39) |
unclassified |
probably benign |
|
|
R0717:Lztr1
|
UTSW |
16 |
17,333,912 (GRCm39) |
splice site |
probably null |
|
|
R1511:Lztr1
|
UTSW |
16 |
17,327,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Lztr1
|
UTSW |
16 |
17,341,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Lztr1
|
UTSW |
16 |
17,327,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3694:Lztr1
|
UTSW |
16 |
17,326,925 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3935:Lztr1
|
UTSW |
16 |
17,340,059 (GRCm39) |
nonsense |
probably null |
|
|
R4645:Lztr1
|
UTSW |
16 |
17,341,955 (GRCm39) |
unclassified |
probably benign |
|
|
R5624:Lztr1
|
UTSW |
16 |
17,329,993 (GRCm39) |
splice site |
probably benign |
|
|
R7175:Lztr1
|
UTSW |
16 |
17,340,895 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7222:Lztr1
|
UTSW |
16 |
17,341,996 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7420:Lztr1
|
UTSW |
16 |
17,341,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Lztr1
|
UTSW |
16 |
17,327,525 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7516:Lztr1
|
UTSW |
16 |
17,327,525 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8027:Lztr1
|
UTSW |
16 |
17,329,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8153:Lztr1
|
UTSW |
16 |
17,336,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8836:Lztr1
|
UTSW |
16 |
17,343,402 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8965:Lztr1
|
UTSW |
16 |
17,327,296 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9015:Lztr1
|
UTSW |
16 |
17,337,305 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9232:Lztr1
|
UTSW |
16 |
17,339,343 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9667:Lztr1
|
UTSW |
16 |
17,327,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation